Multidisciplinary Management of Fabry Disease: Current Perspectives

J Multidiscip Healthc. 2022 Mar 10;15:485-495. doi: 10.2147/JMDH.S290580.

PMID: 35300178

Luciana Paim-Marques, Rodrigo Joel de Oliveira, Simone Appenzeller

Highlights: This review aims to describe the clinical features and the current perspectives in the multidisciplinary management of Fabry disease (FD) patients.

Abstract

Background: Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that is caused by a GLA gene variant that impairs the hydrolase alpha-galactosidase A (α-GalA). The vast range of clinical signs, frequently vague, are caused by the progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in organs such the skin, kidney, brain, joints, vascular walls, and eyes. Clinically significant and potentially fatal consequences may occur, including malignant ventricular arrhythmia, sudden cardiac death, end-stage kidney failure, and stroke.

Objective: This review discusses the clinical characteristics and recent viewpoints in the multidisciplinary management of FD patients.

Keywords: Fabry disease, alfa-galactosidase, multidisciplinary care